Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death

Por Kats-Ugurlu, Gursah, Hogeveen, Marije, Driessen, Ann, van den Ouweland, Ans M. W., de Kaa, Christina Hulsbergen-van
Publicado em 2010

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis

Por van den Ouweland, Ans M. W., Elfferich, Peter, Lamping, Roy, van de Graaf, Raoul, van Veghel-Plandsoen, Monique M., Franken, S. M., Houweling, A. C.
Publicado em 2010

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

Por van Veghel-Plandsoen, Monique M, Wouters, Cokkie H, Kromosoeto, Joan N R, den Ridder-Klünnen, Mariska C, Halley, Dicky J J, van den Ouweland, Ans M W
Publicado em 2011

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

Por van Minkelen, Rick, Guitart, Miriam, Escofet, Conxita, Yoon, Grace, Elfferich, Peter, Bolman, Galhana M., van der Helm, Robert, van de Graaf, Raoul, van den Ouweland, Ans M.W.
Publicado no BMC Med Genet (2015)

Fetal Brain Lesions in Tuberous Sclerosis Complex: TORC1 Activation and Inflammation

Por Prabowo, Avanita S., Anink, Jasper J., Lammens, Martin, Nellist, Mark, van den Ouweland, Ans M. W., Adle‐Biassette, Homa, Sarnat, Harvey B., Flores‐Sarnat, Laura, Crino, Peter B., Aronica, Eleonora
Publicado em 2012

Peutz–Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

Por van Lier, Margot G F, Korsse, Susanne E, Mathus-Vliegen, Elisabeth M H, Kuipers, Ernst J, van den Ouweland, Ans M W, Vanheusden, Kathleen, van Leerdam, Monique E, Wagner, Anja
Publicado em 2012

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

Por Tarailo-Graovac, Maja, Drögemöller, Britt I., Wasserman, Wyeth W., Ross, Colin J. D., van den Ouweland, Ans M. W., Darin, Niklas, Kollberg, Gittan, van Karnebeek, Clara D. M., Blomqvist, Maria
Publicado no Orphanet J Rare Dis (2017)

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

Por van den Ouweland, Ans M W, Elfferich, Peter, Zonnenberg, Bernard A, Arts, Willem F, Kleefstra, Tjitske, Nellist, Mark D, Millan, Jose M, Withagen-Hermans, Caroline, Maat-Kievit, Anneke J A, Halley, Dicky J J
Publicado em 2011

Prevalence of the variant allele rs61764370 T>G in the 3′UTR of KRAS among Dutch BRCA1, BRCA2 and non-BRCA1/BRCA2 breast cancer families

Por Hollestelle, Antoinette, Pelletier, Cory, Hooning, Maartje, Crepin, Ellen, Schutte, Mieke, Look, Maxime, Collee, J. Margriet, Nieuwlaat, Anja, Dorssers, Lambert C. J., Seynaeve, Caroline, Aulchenko, Yurii S., Martens, John W. M., van den Ouweland, Ans M. W., Weidhaas, Joanne B.
Publicado em 2010

Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk

Por Liu, Jingjing, Prager–van der Smissen, Wendy J. C., Schmidt, Marjanka K., Collée, J. Margriet, Cornelissen, Sten, Lamping, Roy, Nieuwlaat, Anja, Foekens, John A., Hooning, Maartje J., Verhoef, Senno, van den Ouweland, Ans M. W., Hogervorst, Frans B. L., Martens, John W. M., Hollestelle, Antoinette
Publicado no Sci Rep (2016)

The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis r...

Por Farkas, Katalin, Deák, Barbara Kocsis, Sánchez, Laura Cubells, Martínez, Ana Mercedes Victoria, Corell, Juan José Vilata, Botella, Alfredo Montoro, Benito, Goitzane Marcaida, López, Raquel Rodríguez, Vanecek, Tomas, Kazakov, Dmitry V., Kromosoeto, Joan N. R., van den Ouweland, Ans M. W., Varga, János, Széll, Márta, Nagy, Nikoletta
Publicado no BMC Genet (2016)

Refinement of the Multiple Exostoses Locus (EXT2) to a 3-cM Interval on Chromosome 11

Por Wuyts, Wim, Ramlakhan, Sarvan, Van Hul, Wim, Hecht, Jacqueline T., van den Ouweland, Ans M. W., Raskind, Wendy H., Hofstede, Floris C., Reyniers, Edwin, Wells, Dan E., de Vries, Bert, Conrad, Ernest U., Hill, April, Zalatayev, Dmitry, Weissenbach, Jean, Wagner, Michael J., Bakker, Egbert, Halley, Dicky J. J., Willems, Patrick J.
Publicado em 1995

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

Por Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne
Publicado no Fam Cancer (2016)

Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex

Por Mühlebner, Angelika, van Scheppingen, Jackelien, Hulshof, Hanna M., Scholl, Theresa, Iyer, Anand M., Anink, Jasper J., van den Ouweland, Ans M. W., Nellist, Mark D., Jansen, Floor E., Spliet, Wim G. M., Krsek, Pavel, Benova, Barbora, Zamecnik, Josef, Crino, Peter B., Prayer, Daniela, Czech, Thomas, Wöhrer, Adelheid, Rahimi, Jasmin, Höftberger, Romana, Hainfellner, Johannes A., Feucht, Martha, Aronica, Eleonora
Publicado no PLoS One (2016)

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12‐Related Craniosynostosis

Por Goos, Jacqueline A.C., Fenwick, Aimee L., Swagemakers, Sigrid M.A., McGowan, Simon J., Knight, Samantha J.L., Twigg, Stephen R.F., Hoogeboom, A. Jeannette M., van Dooren, Marieke F., Magielsen, Frank J., Wall, Steven A., Mathijssen, Irene M.J., Wilkie, Andrew O.M., van der Spek, Peter J., van den Ouweland, Ans M.W.
Publicado no Hum Mutat (2016)

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Por Twigg, Stephen R.F., Forecki, Jennifer, Goos, Jacqueline A.C., Richardson, Ivy C.A., Hoogeboom, A. Jeannette M., van den Ouweland, Ans M.W., Swagemakers, Sigrid M.A., Lequin, Maarten H., Van Antwerp, Daniel, McGowan, Simon J., Westbury, Isabelle, Miller, Kerry A., Wall, Steven A., van der Spek, Peter J., Mathijssen, Irene M.J., Pauws, Erwin, Merzdorf, Christa S., Wilkie, Andrew O.M.
Publicado no Am J Hum Genet (2015)

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Por Spurdle, Amanda B, Whiley, Phillip J, Thompson, Bryony, Feng, Bingjian, Healey, Sue, Brown, Melissa A, Pettigrew, Christopher, kConFab, Van Asperen, Christi J, Ausems, Margreet G E M, Kattentidt-Mouravieva, Anna A, van den Ouweland, Ans M W, Lindblom, Annika, Pigg, Maritta H, Schmutzler, Rita K, Engel, Christoph, Meindl, Alfons, Caputo, Sandrine, Sinilnikova, Olga M, Lidereau, Rosette, Couch, Fergus J, Guidugli, Lucia, Hansen, Thomas van Overeem, Thomassen, Mads, Eccles, Diana M, Tucker, Kathy, Benitez, Javier, Domchek, Susan M, Toland, Amanda E, Van Rensburg, Elizabeth J, Wappenschmidt, Barbara, Borg, Åke, Vreeswijk, Maaike P G, Goldgar, David E
Publicado em 2012

Genome-wide association study identifies a novel variant in RAD51B associated with male breast cancer risk

Por Orr, Nick, Lemnrau, Alina, Cooke, Rosie, Fletcher, Olivia, Tomczyk, Katarzyna, Jones, Michael, Johnson, Nichola, Lord, Christopher J, Mitsopoulos, Costas, Zvelebil, Marketa, McDade, Simon S, Buck, Gemma, Blancher, Christine, Consortium, KConFab, Trainer, Alison H, James, Paul A, Bojesen, Stig E, Bokmand, Susanne, Nevanlinna, Heli, Mattson, Johanna, Friedman, Eitan, Laitman, Yael, Palli, Domenico, Masala, Giovanna, Zanna, Ines, Ottini, Laura, Giannini, Giuseppe, Hollestelle, Antoinette, van den Ouweland, Ans M.W., Novaković, Srdjan, Krajc, Mateja, Gago-Dominguez, Manuela, Castelao, Jose Esteban, Olsson, Håkan, Hedenfalk, Ingrid, Easton, Douglas F, Pharoah, Paul DP, Dunning, Alison M, Bishop, D Timothy, Neuhausen, Susan L, Steele, Linda, Houlston, Richard S, Garcia-Closas, Montserrat, Ashworth, Alan, Swerdlow, Anthony J
Publicado em 2012

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Por Antoniou, Antonis C., Spurdle, Amanda B., Sinilnikova, Olga M., Healey, Sue, Pooley, Karen A., Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Arnold, Norbert, Hofmann, Wera, Sutter, Christian, Niederacher, Dieter, Deissler, Helmut, Caldes, Trinidad, Kämpjärvi, Kati, Nevanlinna, Heli, Simard, Jacques, Beesley, Jonathan, Chen, Xiaoqing, Neuhausen, Susan L., Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Isaacs, Claudine, Weitzel, Jeffrey, Ganz, Patricia A., Daly, Mary B., Tomlinson, Gail, Olopade, Olufunmilayo I., Blum, Joanne L., Couch, Fergus J., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Radice, Paolo, Szabo, Csilla I., Pereira, Lutecia H. Mateus, Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Barnett-Griness, Ofra, Andrulis, Irene L., Ozcelik, Hilmi, Gerdes, Anne-Marie, Caligo, Maria A., Laitman, Yael, Kaufman, Bella, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Osorio, Ana, Llort, Gemma, Milne, Roger L., Benítez, Javier, Hamann, Ute, Hogervorst, Frans B.L., Manders, Peggy, Ligtenberg, Marjolijn J.L., van den Ouweland, Ans M.W., Peock, Susan, Cook, Margaret, Platte, Radka, Evans, D. Gareth, Eeles, Rosalind, Pichert, Gabriella, Chu, Carol, Eccles, Diana, Davidson, Rosemarie, Douglas, Fiona, Godwin, Andrew K., Barjhoux, Laure, Mazoyer, Sylvie, Sobol, Hagay, Bourdon, Violaine, Eisinger, François, Chompret, Agnès, Capoulade, Corinne, Bressac-de Paillerets, Brigitte, Lenoir, Gilbert M., Gauthier-Villars, Marion, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F.
Publicado em 2008

rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk

Por Liu, Jingjing, Lončar, Ivona, Collée, J. Margriet, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Andrulis, Irene L., Barile, Monica, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Chang-Claude, Jenny, Chen, Shou-Tung, Chenevix-Trench, Georgia, Cheng, Ching Y., Choi, Ji-Yeob, Couch, Fergus J., Cox, Angela, Cross, Simon S., Cuk, Katarina, Czene, Kamila, Dörk, Thilo, dos-Santos-Silva, Isabel, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, García-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., González-Neira, Anna, Guénel, Pascal, Haiman, Christopher A., Hamann, Ute, Hart, Steven N., Hartman, Mikael, Hatse, Sigrid, Hopper, John L., Ito, Hidemi, Jakubowska, Anna, Kabisch, Maria, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela N., Le Marchand, Loic, Lee, Eunjung, Li, Jingmei, Lophatananon, Artitaya, Jan Lubinski, Mannermaa, Arto, Matsuo, Keitaro, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Orr, Nick, Perez, Jose I. A., Peto, Julian, Putti, Thomas C., Pylkäs, Katri, Radice, Paolo, Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Marjanka K., Schneeweiss, Andreas, Shen, Chen-Yang, Shrubsole, Martha J., Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C., Swerdlow, Anthony, Teo, Soo H., Tessier, Daniel C., Thanasitthichai, Somchai, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tseng, Chiu-Chen, Vachon, Celine, Winqvist, Robert, Wu, Anna H., Yannoukakos, Drakoulis, Zheng, Wei, Hall, Per, Dunning, Alison M., Easton, Douglas F., Hooning, Maartje J., van den Ouweland, Ans M. W., Martens, John W. M., Hollestelle, Antoinette
Publicado no Sci Rep (2016)